A 30-year-old primipara was seen in our unit at 13 weeks of gestation. Both parents were asymptomatic heterozygotic carriers of Nemaline myopathy. The ultrasonographic examination at 13 weeks revealed single umbilical artery, abnormal curvature of fetal spine, but with normal shape of vertebral bodies, and absence of gross fetal movements. The diagnosis of the Nemaline myopathy was confirmed by chorionic villus sampling (CVS).